共查询到19条相似文献,搜索用时 687 毫秒
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目的 探讨谷氨酸脱羧酶65(GAD65)抗体相关性小脑性共济失调患者的临床表现、诊断、治疗及预后,提高临床医生对此疾病的认识。方法 报道1例GAD65抗体相关性小脑性共济失调患者的临床资料,结合国内外相关报道进行诊断、治疗及预后分析。结果 患者为中年女性,以进行性头晕、视物晃动、行走不稳为主要症状,查体发现垂直下跳性眼震,下视及侧视时加重,闭目难立征睁眼、闭眼均阳性;血清及脑脊液发现GAD65抗体强阳性(1∶100)。头颅磁共振及脑葡萄糖代谢核素扫描均未见明显异常。给予静脉注射丙种球蛋白与糖皮质激素联合治疗后1个月,患者头晕及躯干共济失调明显好转。结论 GAD65抗体相关性小脑性共济失调临床表现以眼部及小脑受累症状和体征为主,及时给予免疫治疗可以改善预后,临床医生需注意识别。 相似文献
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正抗谷氨酸脱羧酶65 (glutamic acid decarboxylase6 5,GAD 6 5)抗体相关性小脑性共济失调主要表现为共济失调、构音障碍及眼球震颤。本文就我科收治的1例GAD65抗体相关性小脑性共济失调病例报道如下,并对其临床表现、诊断及治疗进行简要总结。1病例资料患者,女,59岁,因"走路不稳3月余"入院。患者于3个月前出现头晕、视物模糊,后逐渐出现 相似文献
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目的探讨GAD65抗体相关性小脑共济失调临床及眼震电图(ENG)特点。方法分析1例影像学阴性GAD65抗体相关性自身免疫性小脑共济失调的临床表现及实验室指标尤其是(ENG)检查特点,结合文献回顾对病例特点综合分析。结果患者老年女性,急性起病,以头晕行走不稳为主要表现,至入院时病程已9个月,逐渐进展,查体双眼左视水平凝视性眼震及左侧肢体共济失调为主。脑脊液(CSF)SOB阳性;CSF和血清GAD65抗体阳性。头颅MRI:小脑和脑干均未见异常。ENG提示脑干、小脑眼动调节中枢病变。激素治疗后患者病情趋于稳定。结论 GAD65抗体相关性小脑共济失调急性起病,波动性进展,累及小脑及脑干,可表现为不对称性偏侧共济失调,影像学可无特异性表现,激素及免疫调剂治疗可稳定病情,不能完全功能恢复。影像表现阴性时ENG作为前庭小脑系统功能性检查手段可以辅助定位。 相似文献
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《脑与神经疾病杂志》2017,(7)
目的探讨GAD-65抗体相关性小脑性共济失调的临床、血清学特点和预后。方法报道1例抗GAD-65抗体相关性小脑性共济失调患者,分析其临床和血清学特征。结果患者中年女性,急性起病,波动性病程,阶段性加重,主要表现为间断发作的眩晕,以及持续存在的复视、不对称性的右侧肢体共济失调,共济失调在头晕发作时加重。查体:右睑下垂,双眼上视受限,下视时垂直眼震,右下肢肌张力略低,肌力5-级,右手指鼻稍欠稳准,右侧跟膝胫试验欠稳准,直线行走不能完成,双侧Barbinski征阴性。头颅MRI示右侧小脑蚓部和半球萎缩;脑脊液(CSF)SOB阳性;脑脊液和血清GAD-65抗体强阳性;激素免疫治疗后患者头晕消失,眼动异常和共济失调部分好转。结论 GAD-65抗体相关性共济失调是免疫介导性小脑性共济失调的一种特殊类型,表现为急性或亚急性起病的波动性进展的小脑性共济失调,可累及脑干。并可合并其他自身免疫病,很少与肿瘤共病。血清学检测和尽早免疫治疗可使患者受益。 相似文献
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目的 探讨抗谷氨酸脱羧酶65(GAD65)抗体脑炎患者的临床特点。方法 回顾性总结分析2016年4月至2022年3月就诊于中南大学湘雅医院神经内科的9例抗GAD65抗体脑炎患者的临床资料。结果 9例患者发病年龄为14~76(31.2±20.5)岁;男女比例为4∶5。1例有前驱感染史。首发症状:癫痫发作3例、头痛2例、头晕1例、听力下降与幻嗅1例、不自主运动1例、面部感觉异常1例。临床表现:边缘性脑炎5例、单纯癫痫发作1例、边缘性脑炎伴小脑性共济失调1例、僵人综合征伴脑干脑炎1例、癫痫发作伴僵人综合征及小脑性共济失调1例。9例患者中,合并胰岛素依赖型糖尿病2例、合并甲状腺功能亢进1例、血抗甲状腺过氧化物酶抗体阳性4例。9例均进行了头部磁共振(MRI)检查,海马或颞叶异常信号3例、小脑萎缩1例。有7例患者在急性期进行了脑电图检查,4例合并癫痫样放电,均累及额颞区,其中有3例还累及双侧。9例患者均接受免疫治疗,单用一线治疗3例、一线联合二线治疗6例。6例接受了抗癫痫药治疗,其中4例需联合应用2种及2种以上的抗癫痫药。对9例患者进行了随访,失访1例;6例预后良好,其中2例症状完全缓解,4例部分... 相似文献
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<正>1988年《新英格兰医学杂志》发表的一项研究中首次描述了谷氨酸脱羧酶(GAD)抗体[1],GAD抗体是合成抑制性神经递质γ-氨基丁酸的限速酶,与多种神经系统综合征相关,包括僵硬人综合征、边缘性脑炎、癫痫和小脑共济失调等。目前关于GAD抗体相关的综合征并不常见,本文现报道1例抗GAD抗体相关小脑性共济失调(cerebellar ataxia,CA)和1例抗GAD抗体相关的自身免疫性脑炎(autoimmune encephalitis,AE),以加深临床对本病的认识。 相似文献
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目的探讨抗谷氨酸脱羧酶(glutamic acid decarboxylase,GAD)抗体阳性自身免疫性脑炎的临床症状及相关辅助检查特点,为临床正确诊疗抗GAD相关脑炎提供依据。方法对作者医院自2016年1月至2018年8月期间明确诊断的3例抗GAD抗体阳性自身免疫性脑炎患者进行回顾性研究,分析其一般人口学、临床症状学、脑脊液细胞学、影像学、脑电图、治疗及预后等特征。结果3例患者均为女性,发病年龄分别为44岁、26岁、27岁,其中2例患者以难治性癫痫状态起病,1例以头痛起病,病程中均出现一定程度意识障碍及显著认知功能下降,其中1例患者病情恢复期出现类似吉兰-巴雷综合征样周围神经损害;头颅MRI均表现为双侧海马、颞叶等边缘叶系统核异常信号,且进行性加重。3例均检测到GAD65抗体,其中1例发病初期即检测到该抗体,2例患者发病初期神经元抗体检测为阴性,分别于发病43 d、79 d脑脊液检测到;3例患者发病初期脑电图表现中-重度广泛性、多灶样异常,中-高波幅3~5 Hz慢波阵发,杂有稍多量尖棘波发放。1例患者发病初期脑脊液白细胞计数增高(淋巴细胞97%),10 d后复查恢复正常,余2例患者脑脊液常规生化免疫及细胞学未见明显异常。三例患者经甲泼尼龙及大剂量免疫球蛋白治疗后认知功能较症状高峰期基本恢复,未再有癫痫发作。结论此3例抗GAD抗体阳性自身免疫性脑炎患者均为女性,中青年发病,初期表现难治性癫痫持续状态或者耐药性癫痫,恢复期出现认知功能减退,病程中均无显著精神症状;影像学以双侧额颞叶、海马受累较为明显;病程中脑脊液抗GAD 65抗体均阳性,且脑脊液中该抗体发病初期可为阴性。 相似文献
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<正>自身免疫性小脑共济失调(autoimmune cerebellar ataxia, ACA)是由自身免疫机制介导的小脑综合征[1],患者血清或脑脊液(CSF)中常可检测出致病性或对诊断特异性的抗体,临床上常表现为步态共济失调、肢体共济失调、头晕和构音障碍、吞咽困难等。随着相关抗体的发现,抗体介导的小脑性共济失调病例逐渐被报道,目前抗浦肯野细胞抗体2型(PCA-2)阳性的ACA例报道较少。 相似文献
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Vulliemoz S Vanini G Truffert A Chizzolini C Seeck M 《Journal of neurology, neurosurgery, and psychiatry》2007,78(2):187-189
Anti-glutamic acid decarboxylase (GAD) antibodies are described in stiff-person syndrome and also in other neurological syndromes, including cerebellar ataxia and epilepsy. This paper reports the case of a patient who had chronic focal epilepsy, upbeat nystagmus and cerebellar ataxia, associated with a polyautoimmune response including anti-GAD antibodies. Both gait and nystagmus improved markedly after immunosuppressive treatment with corticosteroids and azathioprine. After the introduction of benzodiazepines, previously refractory seizures were completely controlled. Anti-GAD antibodies should be actively sought out in pharmacoresistant epilepsy, particularly if other neurological abnormalities are present. Combined treatment with immunosuppressants and gammahydroxybutyric acidergic agents may be highly effective. 相似文献
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Degenerative diseases of the CNS, such as stiff-person syndrome (SPS), progressive cerebellar ataxia, and Rasmussen encephalitis, have been characterized by the presence of autoantibodies. Recent findings in individuals with Batten disease and in animal models for the disorder indicate that this condition may be associated with autoantibodies against glutamic acid decarboxylase (GAD), an enzyme that converts the excitatory neurotransmitter glutamate to the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). Anti-GAD autoantibodies could result in excess excitatory neurotransmitters, leading to the seizures and other symptoms observed in patients with Batten disease. The pathogenic potential of GAD autoantibodies is examined in light of what is known for other autoimmune disorders, such as multiple sclerosis, SPS, Rasmussen encephalitis, and type 1 diabetes, and may have radical implications for diagnosis and management of Batten disease. 相似文献
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Kazunori Nanri Hisayoshi Niwa Hiroshi Mitoma Asako Takei Junko Ikeda Toshihide Harada Mitsunori Okita Masafumi Takeguchi Takeshi Taguchi Hidehiro Mizusawa 《Cerebellum (London, England)》2013,12(2):171-175
The majority of cases of anti-glutamic acid decarboxylase (GAD)-antibody-positive cerebellar ataxia are reported to have high levels of anti-GAD antibody, and the diagnostic value of low titers of anti-GAD antibody in a patient with cerebellar ataxia is still unknown. The purpose of this study was to verify the characteristics of low-titer-anti-GAD-antibody-positive cerebellar ataxia patients and the diagnostic value of low titers of anti-GAD antibody in patients with cerebellar ataxia. The subjects were six patients positive for low-titer GAD antibody (<100 U/mL). We examined them with MRI, including voxel-based morphometry, and with single-photon emission computed tomography and monitored the GAD antibody index in the cerebrospinal fluid. The levels of antineuronal, antigliadin, anti-SS-A, antithyroid antibodies, and of vitamins E, B1, and B12 were determined. Thoracic and abdominal CT scans were performed to exclude a paraneoplastic origin. We treated three patients with immunotherapy. All cases showed cortical cerebellar atrophy. The GAD antibody index in three of the five patients reviewed was >1.0. Two of the six patients were thyroid antibody-positive, and one was both antinuclear- and anti-SS-A antibody-positive. After the administration of immunotherapy to three patients, two showed clear effectiveness, and one, transient effectiveness. Effectiveness was greatest in the two patients with familial occurrence of the disease. In cerebellar ataxia, regardless of family history or isolated illness, it is critical to measure the GAD antibody level, and, even with a low titer level, if the result is positive, immunotherapy should be considered. 相似文献
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M. Vianello G. Keir B. Giometto C. Betterle B. Tavolato E. J. Thompson 《European journal of neurology》2005,12(4):294-299
Antibodies to glutamic acid decarboxylase (GADAb) are found in Stiff-Person syndrome, type 1 diabetes, cerebellar ataxia and other neurological disorders (such as epilepsy and myoclonus) involving the GABAergic ways. GADAb are usually detected by immunohistochemistry (IHC), radioimmunoassay (RIA) or enzyme-linked immunosorbent assay (ELISA). This study analysed the serum of 14 patients with neurological disorders who were positive by IHC for GADAb. The performance of a commercial RIA was compared with in-house immunoblotting and ELISA methods using recombinant GAD65 (rGAD65). RIA was positive in 14 of 14, immunoblotting was positive in seven of 14 and ELISA in 12 of 14. There was no correlation between the RIA result and the ELISA optical densities. Using a sodium thiocyanate chaotrope system with ELISA to determine antibody affinity, we found no significant correlation between antibody affinity and the RIA result. A consensus should be defined concerning which assay could be used as the gold standard for detecting GADAb. The most intriguing finding was that GAD antibodies from uncomplicated diabetics do not appear to recognize GAD in frozen sections from the rat cerebellum, whereas GAD antibodies from neurologically compromised diabetics do. A working proposal is therefore that type 1 diabetic patients with unusual neurological symptoms should be tested for GADAb both by RIA and IHC. 相似文献
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The glutamic acid decarboxylase 65‐kilodalton isoform (GAD65) antibody is a biomarker of autoimmune central nervous system (CNS) disorders and, more commonly, nonneurological autoimmune diseases. Type 1 diabetes, autoimmune thyroid disease, and pernicious anemia are the most frequent GAD65 autoimmune associations. One or more of these disorders coexists in approximately 70% of patients with GAD65 neurological autoimmunity. Neurological phenotypes have CNS localization and include limbic encephalitis, epilepsy, cerebellar ataxia, and stiff‐person syndrome (SPS), among others. Classic SPS is a disorder on the spectrum of CNS hyperexcitability which also includes phenotypes that are either more restricted (stiff‐limb syndrome) or more widespread (progressive encephalomyelitis with rigidity and myoclonus). GAD65 antibody is not highly predictive of a paraneoplastic cause for neurological disorders, but diverse cancer types have been occasionally reported. For all phenotypes, responses to immunotherapy are variable (approximately 50% improve). GAD65 autoimmunity is important to recognize for both coexisting nonneurological autoimmune associations and potential immunotherapy‐response. Muscle Nerve 56 : 15–27, 2017 相似文献
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Sugiyama N Hamano S Mochizuki M Tanaka M Takahashi Y 《No to hattatsu. Brain and development》2004,36(1):60-63
A 1-year-8-month-old patient developed cerebellar ataxia following a prodromal infection. Despite initial diagnosis of acute cerebellar ataxia, his symptoms lasted for more than 30 days. High-dose intravenous immunoglobulin and steroid pulse therapy failed to ameliorate his cerebellar symptoms, which fluctuated in association with infections. At the age of 3 years and 8 months, he had mental retardation with cerebellar symptoms. Findings of MR imaging and single photon emission computed tomography were normal. Neuron-specific enolase of cerebrospinal fluid (CSF) ranged from 10.4-17.6 ng/ml, correlating with the cerebellar symptoms. Serum and CSF anti-glutamate receptor delta 2 antibodies were detected in the serum and CSF. We diagnosed him as having chronic cerebellitis associated with anti-glutamate receptor delta 2 antibody. 相似文献
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目的探讨Tr抗体介导的小脑性共济失调患者的临床特点。方法报告1例Tr抗体介导的小脑性共济失调患者的临床特点及随访情况。结果患者为49岁男性,隐匿起病,主要表现为2个月内逐渐进展的小脑性共济失调。既往史无特殊。实验室检查:脑脊液白细胞计数50×106/L,蛋白49 mg/dL;血清Tr抗体强阳性(+++),脑脊液Tr抗体弱阳性(+)。MRI上无小脑结构性改变,PET/CT可见双侧小脑葡萄糖代谢轻度减低。经系统排查,未发现肿瘤。先后予以糖皮质激素、静脉注射人免疫球蛋白(intravenous immunoglobulin,IVIG)治疗后,患者症状稍有缓解,脑脊液白细胞计数下降至7×106/L,蛋白下降至24 mg/dL,血清Tr抗体转为阴性。结论本例患者主要表现为进展型共济失调,脑脊液细胞数和蛋白水平轻度升高,血清和脑脊液Tr抗体均阳性,PET/CT可见双侧小脑葡萄糖代谢轻度减低,免疫治疗有效,但未查及肿瘤,在随访中应继续关注。 相似文献
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Usui D Mitsuda N Hosokawa T Fujieda M Takahashi Y Wakiguchi H 《No to hattatsu. Brain and development》2011,43(1):41-45
We recently encountered a 13-year-old girl who developed persistent cerebellar symptoms one month after mixed measles/rubella vaccination, making it difficult to distinguish this condition from conversion disorders. Severe truncal ataxia was the initial manifestation in this case. The patient had no abnormalities in objective tests but began to show extraordinary circadian variations in certain parameters. Her cerebellar symptoms were thus considered to possibly be associated with conversion disorders. Later, she tested positive for cerebrospinal fluid anti-glutamic acid receptor (GluR) delta2 antibody. The lymphocyte stimulation test yielded a positive reaction to GluRdelta2 antigen. In addition, in the chronic stage SPECT revealed reduced cerebellar blood flow. She was thus diagnosed as having persistent cerebellar ataxia due to autoimmune mechanisms and modification of cerebellar symptoms due to secondary conversion disorders. Our experience with this case suggests that checking cerebrospinal fluid for anti-GluRdelta2 antibody is possibly useful for distinguishing between conversion disorders and cerebellar ataxia due to autoimmune mechanisms. 相似文献
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A 59-year-old woman with a past history of pigmentary retinopathy developed progressive encephalomyelitis with rigidity (PEW R) characterized clinically by cerebellar ataxia, pyramidal signs and stiffness with painful muscle spasms. At the same period, retinopathy strikingly worsened. Her serum contained antibodies against glutamic acid decarboxylase (GAD). She developed diabetes mellitus under corticotherapy, which was inefficient Neurologic signs dramatically improved with diazepam and high dose of intravenous immunoglobulin (i.v. Ig). Anti-GAD antibodies have been described in stiff man syndrome, but in only one previous case of PEWR. Presence of such autoantibodies in serum and improvement following l.v. IgG infusion strongly suggest an autoimmune mechanism involving, in our case central nervous system, pancreas and probably retina. 相似文献